An article recently highlighted the stories of young patients with Ehlers-Danlos syndrome and how they are taking their diagnoses to spearhead research about the rare disease.
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders of the body’s connective tissue. These disorders affect the supportive connective tissue of the skin, bones, and blood vessels, as well as many organs and body tissues. There are different types of EDS which are defined by their symptoms. It is estimated that 1 in 2,500 to 5,000 people have EDS worldwide. EDS affects all races and genders equally.
Most commonly the symptoms of EDS affect the skin and joints. Symptoms differ due to the type of EDS and include:
- Skin: EDS causes soft velvet like skin which is very fragile and highly elastic. EDS results in easy bruising, fragile skin which tears easily, poor healing and characteristic widening scars known as “cigarette paper” scars.
- Joints: EDS leads to loose, unstable, highly flexible joints that dislocate or sprain easily. Other effects on the joints include tearing of muscles and tendons as well as deformities of the fingers, neck and spine.
- Cardiovascular: Some forms of EDS can affect the vessels and organs of the cardiovascular system. These symptoms include sudden vessel rupture, internal bleeding, stroke, heart valve disease, heart rhythm disorders, and varicose veins. These symptoms can be fatal.
- Other symptoms: EDS can also cause malfunction in the digestive tract, vessels of the brain, and respiratory system. Females with EDS may experience complications with pregnancy.
There is no cure for EDS. Treatment is focused on preventing damage and improving quality of life. These include:
- Braces for unstable joints
- Physical therapy
- Medications for pain and heart problems
- Emotional support and therapy to help cope with lifestyle limitations and chronic symptoms
- Surgery to repair damaged joints
- Close monitoring of cardiovascular system
Cortney Gensemer’s Story
In high school, at age 14, Cortney Gensemer started having symptoms of EDS that forced her to sit out of participating in her varsity lacrosse team. What followed was multiple joint dislocations and soft tissue tears in her hips, which Gensemer chalked up to her simply not being tough enough. Finally, a year into her college career at age 19, she was diagnosed with the hypermobile form of EDS. She has had a total of eight surgeries since her diagnosis, with her most recent one being to fix the loose ligaments in her neck.
Flash forwards a few years, and she is studying her own disease as a doctoral candidate at the Medical University of South Carolina (MUSC). Gensemer is credited with inspiring MUSC to consider opening the first EDS institute in the country. The institute would be responsible for research, clinical care, and education surrounding EDS.
Leading Research at MUSC
EDS was not majorly studied at MUSC until Gensemer came along, and she is now a part of a team of 13 people, of which a few have also been diagnosed with EDS. The team has been able to find a strong candidate gene for the hypermobile version of EDS. This has the possibility of being able to diagnose patients earlier and more concretely.
Gensemer has also created an EDS patient registry, which has collected DNA information from thousands of patients across the nation for more genetic research.
Diagnosis Struggles with EDS
It is estimated that there are a great number of people who are living with EDS but have gone undiagnosed. This is due to the fact that diagnosis can be tricky, since there isn’t a molecular or genetic test for hypermobile EDS, and the various forms of the disease exhibit symptoms differently. On average, patients with EDS are not diagnosed until 10 to 14 years after first experiencing symptoms.
Patients who are diagnosed will more than likely have to undergo surgeries and surgical procedures in order to obtain relief from their chronic pain.
Sydney Severance’s Story
Sydney Severance is a sixteen-year-old who was diagnosed with EDS after months of relentless doctor appointments. Her symptoms presented so severely she was wheelchair bound, with an extreme form of light sensitivity and constant vomiting. She went to MUSC, where they discovered she had craniocervical instability. Unable to sit in a car long enough to drive to her MRI scan, Severance had to be flown out, a privilege not a lot of EDS patients have.
In 2020, she had her first surgery. After this surgery, she created a campaign named Operation Upright to raise money to get an upright MRI machine brought to Charleston, South Carolina. Her hopes are that by making this machine more accessible to people, it will increase early detection of EDS.
Both Gensemer and Severance are using their own stories to raise awareness for Ehlers-Danlos syndrome. For them, a part of their personal fight is helping others get an early diagnosis and funding research to get more answers about the rare disease.